Measuring missing heritability: inferring the contribution of common variants.

ABSTRACT: Genome-wide association studies (GWASs), also called common variant association studies (CVASs), have uncovered thousands of genetic variants associated with hundreds of diseases. However, the variants that reach statistical significance typically explain only a small fraction of the heritability. One explanation for the "missing heritability" is that there are many additional disease-associated common variants whose effects are too small to detect with current sample sizes. It therefore is useful to have methods to quantify the heritability due to common variation, without having to identify all causal variants. Recent studies applied restricted maximum likelihood (REML) estimation to case-control studies for diseases. Here, we show that REML considerably underestimates the fraction of he

SUBMITTER: Golan D 

PROVIDER: S-EPMC4267399 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature